EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT

General Information (adopted from Orphanet):

Synonyms, Signs: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES
EDMD4
Number of Symptoms 14
OrphanetNr:
OMIM Id: 612998
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: Childhood onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000467) Neck muscle weakness 29 / 7739
2
(HPO:0005144) Left ventricular septal hypertrophy 5 / 7739
3
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
4
(HPO:0003560) Muscular dystrophy 88 / 7739
5
(HPO:0003701) Proximal muscle weakness 105 / 7739
6
(HPO:0007126) Proximal amyotrophy 29 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
(OMIM) Muscle biopsy shows dystrophic pattern 2 / 7739
9
(OMIM) Ventricular and septal hypertrophy 1 / 7739
10
(OMIM) Muscle weakness and atrophy, proximal 5 / 7739
11
(HPO:0003812) Phenotypic variability 129 / 7739
12
(HPO:0011463) Childhood onset 65 / 7739
13
(OMIM) Mild diastolic dysfunction 1 / 7739
14
(OMIM) Neck muscle atrophy 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Zhang et al. (2007) reported a man with onset of a slowly progressive muscular dystrophy from age 11 years. The disorder was characterized by weakness and atrophy of the neck and shoulder girdle muscles with progressive development of ...
Molecular genetics OMIM In 2 unrelated probands with EDMD4, Zhang et al. (2007) identified 2 different heterozygous mutations in the SYNE1 gene (R257H; 608441.0008 and E646K; 608441.0010). The patient with the E646K mutation had a very mild phenotype, with asymptomatic increased ...